Ophthalmology. Retina最新文献

{"title":"Genome-wide Meta-analysis for Myopic Macular Neovascularization Identified a Novel Susceptibility Locus and Revealed a Shared Genetic Susceptibility with Age-Related Macular Degeneration","authors":"Kazuya Morino MD ,&nbsp;Masahiro Miyake MD, PhD ,&nbsp;Masao Nagasaki PhD ,&nbsp;Takahisa Kawaguchi PhD ,&nbsp;Shogo Numa MD, PhD ,&nbsp;Yuki Mori MD, PhD ,&nbsp;Shota Yasukura MD ,&nbsp;Masahiro Akada MD ,&nbsp;Shin-Ya Nakao MD ,&nbsp;Ai Nakata MD ,&nbsp;Hiroki Hashimoto BS ,&nbsp;Ryoko Otokozawa BAgr ,&nbsp;Koju Kamoi MD, PhD ,&nbsp;Hiroyuki Takahashi MD, PhD ,&nbsp;Yasuharu Tabara PhD ,&nbsp;Fumihiko Matsuda PhD ,&nbsp;Kyoko Ohno-Matsui MD, PhD ,&nbsp;Akitaka Tsujikawa MD, PhD","doi":"10.1016/j.oret.2024.09.016","DOIUrl":"10.1016/j.oret.2024.09.016","url":null,"abstract":"<div><h3>Purpose</h3><div>To identify the susceptibility loci for myopic macular neovascularization (mMNV) in patients with high myopia.</div></div><div><h3>Design</h3><div>A genome-wide association study (GWAS) meta-analysis (meta-GWAS).</div></div><div><h3>Participants</h3><div>We included 2783 highly myopic individuals, including 608 patients with mMNV and 2175 control participants without mMNV.</div></div><div><h3>Methods</h3><div>We performed a meta-analysis of 3 independent GWASs conducted according to the genotyping platform (Illumina Asian Screening Array [ASA] data set, Illumina Human610 BeadChip [610K] data set, and whole genome sequencing [WGS] data set), adjusted for age, sex, axial length, and the first to third principal components. We used DeltaSVM to evaluate the binding affinity of transcription factors (TFs) to DNA sequences around the susceptibility of single nucleotide polymorphisms (SNPs). In addition, we evaluated the contribution of previously reported age-related macular degeneration (AMD) susceptibility loci.</div></div><div><h3>Main Outcome Measures</h3><div>The association between SNPs and mMNV in patients with high myopia.</div></div><div><h3>Results</h3><div>The meta-GWAS identified rs56257842 at <em>TEX29</em> <em>- LINC02337</em> as a novel susceptibility SNP for mMNV (odds ratio [OR]_meta = 0.62, <em>P</em>_meta = 4.63 × 10⁻⁸, I² = 0.00), which was consistently associated with mMNV in all data sets (OR_ASA = 0.59, <em>P</em>_ASA = 1.71 × 10⁻⁴; OR_610K = 0.63, <em>P</em>_610K = 5.53 × 10⁻⁴; OR_WGS = 0.66, <em>P</em>_WGS = 4.38 × 10⁻²). Transcription factor-wide analysis showed that the TFs ZNF740 and EGR1 lost their binding affinity to this locus when rs56257842 had the C allele (alternative allele), and the WNT signaling-related TF ZBTB33 gained binding affinity when rs56257842 had the C allele. When we examined the associations of AMD susceptibility loci, rs12720922 at <em>CETP</em> showed a statistically significant association with mMNV (OR_meta = 0.52, <em>P</em>_meta = 1.55 × 10⁻⁵), whereas rs61871745 near <em>ARMS2</em> showed a marginal association (OR_meta = 1.25, <em>P</em>_meta = 7.79 × 10⁻³).</div></div><div><h3>Conclusions</h3><div>Our study identified a novel locus associated with mMNV in high myopia. Subsequent analyses offered important insights into the molecular biology of mMNV, providing the potential therapeutic targets for mMNV. Furthermore, our findings imply shared genetic susceptibility between mMNV and AMD.</div></div><div><h3>Financial Disclosure(s)</h3><div>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</div></div>","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":"9 4","pages":"Pages 367-377"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bilateral Retinocytoma in a Child: A Rare Presentation","authors":"Vijitha S. Vempuluru MD,&nbsp;Swathi Kaliki MD","doi":"10.1016/j.oret.2024.08.016","DOIUrl":"10.1016/j.oret.2024.08.016","url":null,"abstract":"","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":"9 4","pages":"Page e35"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142292679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Widefield Retinal Imaging in Gyrate Atrophy","authors":"Srikanta Kumar Padhy MD ,&nbsp;Deepika C. Parameswarappa MS ,&nbsp;Sumant Sharma MD ,&nbsp;Tapas Ranjan Padhi MS ,&nbsp;Subhadra Jalali MS ,&nbsp;Brijesh Takkar MD ,&nbsp;Raja Narayanan MS","doi":"10.1016/j.oret.2024.10.016","DOIUrl":"10.1016/j.oret.2024.10.016","url":null,"abstract":"<div><h3>Objective</h3><div>To profile a cohort of gyrate atrophy patients classified by widefield retinal imaging and correlate the structural, biochemical, and functional characteristics.</div></div><div><h3>Design</h3><div>Retrospective observational cohort study.</div></div><div><h3>Participants</h3><div>Sixty-five patients (129 eyes) with gyrate atrophy.</div></div><div><h3>Methods</h3><div>Data of participants with a diagnosis of gyrate atrophy were retrieved from their electronic medical records (January 2015 to December 2023). Retinal involvement was classified into 3 zones using widefield retinal images. Zone 3 had atrophic patches in the area anterior to the equator; zone 2 had involvement limited to the arcades but posterior to the equator; zone 1 had involvement within the vascular arcades and/or peripapillary region, with or without any other zone involvement. Macular assessment was performed using swept-source OCT (n = 104). Flash electroretinogram (ERG) was performed in 40 eyes. Serum ornithine levels (n = 35) were measured, and genetic analysis was conducted (n = 18).</div></div><div><h3>Main Outcome Measures</h3><div>Demography, patient profile, zone of retina involved, macular features, and serum ornithine levels.</div></div><div><h3>Results</h3><div>The average age at presentation was 26.4 (range, 5–67) years; the majority were male. Nyctalopia (n = 35, 53.8%) and blurred vision (n = 29, 44.6%) were the most common symptoms. Positive family history was reported in 32.3% of patients. Most eyes were myopic (69.8% &lt;−3 diopters). Posterior subcapsular cataracts were documented in 36.4% of eyes. The highest frequency of retinal area affected was zone 1 (57.14%), followed by zone 2 (33.33%) and zone 3 (9.52%), correlating with the age at presentation. Foveoschisis was observed in 57.7% of eyes, with a higher prevalence in eyes with zone 1 disease. Elevated serum ornithine levels (&gt;163 μmol/L) were found in 77.14% of patients. The ERG showed nonrecordable (n = 32) or severely reduced (n = 8) responses in scotopic and photopic phases. Genetic analysis of 18 patients identified mutations in the <em>OAT</em> gene, including a novel missense variant (c.290T&gt;C).</div></div><div><h3>Conclusions</h3><div>This large cohort of patients with gyrate atrophy revealed symmetrical involvement, predominantly in zone 1. Most patients presented between the first and third decades, experienced nyctalopia, vision reduction, early posterior subcapsular cataracts, and varying degrees of myopia. Zone 1 involvement was strongly associated with foveoschisis and visual compromise.</div></div><div><h3>Financial Disclosure(s)</h3><div>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</div></div>","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":"9 4","pages":"Pages 392-401"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Telescreening for Retinopathy of Prematurity After 40 Weeks Postmenstrual Age.","authors":"Daanyal Raja, Cindy S Zhao, Sarthak V Shah, Saeed Mohammadi, Arthur R Brant, Darius M Moshfeghi","doi":"10.1016/j.oret.2025.03.025","DOIUrl":"https://doi.org/10.1016/j.oret.2025.03.025","url":null,"abstract":"<p><p>Of 111 infants without retinopathy of prematurity or prior treatment examined biweekly ≥40 weeks post-menstrual age, two developed reactivated stage 1 disease but spontaneously regressed. Biweekly examinations after 40 weeks may safely optimize healthcare resources.</p>","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disease Activity Criteria Impact Dosing Interval Assignment in Neovascular Age-related Macular Degeneration Trials","authors":"Marco A. Zarbin MD, PhD ,&nbsp;Christina Y. Weng MD, MBA ,&nbsp;Nikolas J.S. London MD, FACS ,&nbsp;Adrian Hock Chuan Koh FRCS(Edin), FRCOphth ,&nbsp;Roberto Gallego-Pinazo MD ,&nbsp;Varun Chaudhary MD, FRCS(C) ,&nbsp;Audrey Souverain PharmD, MSc ,&nbsp;Ivaylo Stoilov MD ,&nbsp;Philippe Margaron PhD","doi":"10.1016/j.oret.2024.12.021","DOIUrl":"10.1016/j.oret.2024.12.021","url":null,"abstract":"","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":"9 4","pages":"Pages 404-407"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142903327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retinal Vascular Occlusion Postintraarterial Chemotherapy for Retinoblastoma","authors":"Prabu Baskaran MS, DNB,&nbsp;Aditya Maitray MS,&nbsp;Karthikeyan Kasilingam MS","doi":"10.1016/j.oret.2024.08.020","DOIUrl":"10.1016/j.oret.2024.08.020","url":null,"abstract":"","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":"9 4","pages":"Page e36"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142292637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Striking Vitreoschisis in Proliferative Diabetic Retinopathy","authors":"Chandrakumar Balaratnasingam MD, PhD ,&nbsp;Elon H.C. van Dijk MD, PhD","doi":"10.1016/j.oret.2024.08.009","DOIUrl":"10.1016/j.oret.2024.08.009","url":null,"abstract":"","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":"9 4","pages":"Page e32"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142292639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reverse Pupillary Block after Implantation of a Sutureless Scleral Fixation Carlevale Intraocular Lens","authors":"Laura Sánchez-Vela MD ,&nbsp;Claudia García-Arumí Fusté MD ,&nbsp;Marta Castany-Aregall PhD ,&nbsp;Olaia Subirà-González MD ,&nbsp;Diego Ruiz-Casas PhD ,&nbsp;Pablo de-Arriba-Palomero MD ,&nbsp;José García-Arumí PhD","doi":"10.1016/j.oret.2024.10.004","DOIUrl":"10.1016/j.oret.2024.10.004","url":null,"abstract":"<div><h3>Purpose</h3><div>To describe the incidence, complications and management of reverse pupillary block (RPB) after implantation of Carlevale intraocular lens (IOL).</div></div><div><h3>Design</h3><div>Multicenter, retrospective, cross-sectional study.</div></div><div><h3>Participants</h3><div>Of a sample of 128 patients that had undergone Carlevale IOL implantation, 19 patients were found to present RPB.</div></div><div><h3>Methods</h3><div>Nineteen patients with RPB after Carlevale IOL implantation were evaluated and treated with laser peripheral iridotomy (LPI).</div></div><div><h3>Main Outcome Measures</h3><div>Demographic data (age and gender), data on preexisting medication, axial length (Zeiss IOLMaster 500 and Zeiss IOLMaster 700), presence of pseudoexfoliation material, presence of RPB (anterior segment swept-source SS-OCT Anterion, Heidelberg Engineering), presence of macular edema (Irvine Gass syndrome, OCT Spectralis, Heidelberg Engineering), anterior chamber depth (ACD) before and after LPI, best-corrected visual acuity (BCVA) before and after LPI, and intraocular pressure (IOP) before and after LPI were analyzed.</div></div><div><h3>Results</h3><div>An incidence of RPB of 14.8% was found. The prevalence of pseudoexfoliation syndrome was 21.1%, and 42.1% of patients presented an axial length &gt;24.00 mm. Mean pre-LPI ACD was 4.78 ± 0.465 mm and post-LPI ACD was 4.23 ± 0.404 mm, a statistically significant increase of 0.54 mm (<em>P</em> &lt; 0.001; 95% confidence interval, 0.26–0.83) of ACD was observed. There were no differences between pre- and post-LPI BCVA. Pre-LPI IOP was 17.10 (range, 12–34) mmHg and post-LPI IOP was 14.47 (range, 10–21) mmHg, (<em>P</em> = 0.391). Cystic macular edema (Irvine Gass) was identified in 4 of 19 patients, reporting an incidence of 21.1% in RPB cases.</div></div><div><h3>Conclusions</h3><div>Reverse pupillary block is a relatively common complication after Carlevale lens implantation, which may be associated with an increase of macular edema incidence but does not clearly correlate an increase of IOP. Our hypothesis is that indentation of the sclera induces a posterior rotation of the peripheral iris, causing RPB. Our results encourage looking over the Carlevale IOL implantation technique to consider a routinely intraoperative surgical peripheral iridotomy to avoid RPB and its further complications.</div></div><div><h3>Financial Disclosure(s)</h3><div>The authors have no proprietary or commercial interest in any materials discussed in this article.</div></div>","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":"9 4","pages":"Pages 322-329"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Moyamoya Disease Increased the Risk of Retinal Vascular Occlusion","authors":"Min Seok Kim MD, MSc ,&nbsp;Seonghee Nam MS ,&nbsp;Si Un Lee MD, MSc ,&nbsp;Sang Jun Park MD, PhD ,&nbsp;Se Joon Woo MD, PhD ,&nbsp;Jeongwoo Lee BA ,&nbsp;Kwangsic Joo MD, PhD","doi":"10.1016/j.oret.2024.10.013","DOIUrl":"10.1016/j.oret.2024.10.013","url":null,"abstract":"<div><h3>Purpose</h3><div>To investigate the risk of retinal vascular occlusion in patients with Moyamoya disease (MMD).</div></div><div><h3>Design</h3><div>Retrospective, longitudinal cohort study using the Korean National Health Insurance Service database.</div></div><div><h3>Participants</h3><div>Newly diagnosed MMD patients (n = 34 627), who were diagnosed between 2004 and 2022, and their propensity score matched controls (n = 136 945) were included.</div></div><div><h3>Methods</h3><div>We identified retinal vascular occlusion events using diagnostic codes for central retinal artery occlusion, other retinal artery occlusion, and retinal vein occlusion. After a washout period from 2002 to 2003, information on the diagnosis of retinal vascular occlusion was extracted in both MMD and control group during the follow-up period. The association between MMD and the risk of subsequent retinal vascular occlusion was investigated using a time-dependent Cox proportional hazard model and Kaplan–Meier survival analysis with log-rank test adjusted for age, sex, and comorbidities.</div></div><div><h3>Main Outcome Measures</h3><div>Hazard ratios (HRs) and 95% confidence intervals (CIs) for retinal vascular occlusion development according to the MMD.</div></div><div><h3>Results</h3><div>Moyamoya disease was associated with an increased risk of subsequent retinal vascular occlusion even after adjusting for confounding variables (HR, 1.22; 95% CI, 1.09–1.36). Among the subtypes of retinal vascular occlusion, central retinal artery occlusion showed a highest HR (2.23; 95% CI, 1.35–3.7). Incidence probability of retinal vascular occlusion was significantly higher among MMD patients than controls (<em>P</em> &lt; 0.001, log-rank test).</div></div><div><h3>Conclusions</h3><div>In this nationwide population-based cohort study, patients with MMD in Korea had an elevated risk of retinal vascular occlusion, suggesting that the MMD is one of the risk factors for retinal vascular occlusion.</div></div><div><h3>Financial Disclosure(s)</h3><div>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.</div></div>","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":"9 4","pages":"Pages 386-391"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Re: Muayad et al.: Influence of common medications on diabetic macular edema in type 2 diabetes mellitus (Ophthalmol Retina. 2024 Dec 5:S2468-6530(24)00582-7. doi: 10.1016/j.oret.2024.12.006. Online ahead of print.)","authors":"Wan-Ju Annabelle Lee MD, PhD","doi":"10.1016/j.oret.2025.01.001","DOIUrl":"10.1016/j.oret.2025.01.001","url":null,"abstract":"","PeriodicalId":19501,"journal":{"name":"Ophthalmology. Retina","volume":"9 4","pages":"Pages e28-e29"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143382802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}